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Pediatric Rheumatology Online Journal Jan 2024STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants...
BACKGROUND
STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation and various degrees of immunodeficiency and autoimmunity.
CASE PRESENTATION
We report the case of a 5 year old child and his mother, both of whom presented with systemic inflammatory symptoms yet widely varying organ involvement, disease course and therapeutic response. Genetic testing revealed a heterozygous STING variant, R281Q, in the child and his mother that had previously been associated with SAVI. However, in contrast to previously reported SAVI cases due to the R281Q variant, our patients showed an atypical course of disease with alopecia totalis in the child and a complete lack of lung involvement in the mother.
CONCLUSIONS
Our findings demonstrate the phenotypic breadth of clinical SAVI manifestations. Given the therapeutic benefit of treatment with JAK inhibitors, early genetic testing for SAVI should be considered in patients with unclear systemic inflammation involving cutaneous, pulmonary, or musculoskeletal symptoms, and signs of immunodeficiency and autoimmunity.
Topics: Child, Preschool; Humans; Immunologic Deficiency Syndromes; Inflammation; Interferon Type I; Lung; Mutation; Vascular Diseases; Male; Female
PubMed: 38178067
DOI: 10.1186/s12969-023-00934-4 -
Health Psychology Report 2024Alopecia is an autoimmune condition that results in hair loss, mainly from the scalp. There are three specific types of autoimmune alopecia: alopecia areata (AA; small...
BACKGROUND
Alopecia is an autoimmune condition that results in hair loss, mainly from the scalp. There are three specific types of autoimmune alopecia: alopecia areata (AA; small patches of hair loss), alopecia totalis (AT; total hair loss from the scalp) and alopecia universalis (AU; total hair loss from the scalp and body). Whilst research has explored the experiences of White women living with alopecia, there is a lack of research exploring the impact of alopecia on women in the Black community. The current study aimed to explore Black women's experience of living with autoimmune types of alopecia with a focus on the cultural importance of hair within the Black community and the impact of social support.
PARTICIPANTS AND PROCEDURE
Seven Black women (age range: 37-68 years; mean age: 51 years) were recruited purposively through alopecia support group organisations and social media to participate in a semi-structured interview; four participants were diagnosed with AA, two participants were diagnosed with AU, and one participant was diagnosed with AT. One-to-one interviews were conducted online, and interpretative phenomenological analysis was used to guide data collection and analysis.
RESULTS
Participants discussed the significance of hair specifically within the Black community and the complex relationship between psychological wellbeing, coping and seeking support.
CONCLUSIONS
This novel area, specific to Black women's psychological experience of alopecia, acknowledges the influence of cultural and ethnic differences. The findings suggest that proactive awareness from health professionals and social support groups are needed due to the nuances of Black women's alopecia experience to provide better support and to enhance the quality of life for Black women to manage their alopecia.
PubMed: 38628276
DOI: 10.5114/hpr/177730 -
Indian Journal of Dermatology,... 2015Severe, extensive, therapy resistant alopecia areata represents a clinical challenge. Systemic corticosteroids are a therapeutic tool that still needs to be evaluated. (Clinical Trial)
Clinical Trial
BACKGROUND
Severe, extensive, therapy resistant alopecia areata represents a clinical challenge. Systemic corticosteroids are a therapeutic tool that still needs to be evaluated.
AIM
The purpose of this study was to assess the efficacy and safety of methylprednisolone pulse therapy in alopecia areata and to find prognostic factors for a favourable outcome.
METHODS
A total of 32 patients with severe multifocal alopecia areata (more than 40% scalp hair loss), alopecia totalis, and alopecia universalis were treated with infusions of 500 mg methylprednisolone for 3 days every month for 3 consecutive months. The end point of the study was 12 months.
RESULTS
Of 32 patients, 26 (81.3%) reported a clinical response. Four patients (12.5%) showed complete hair regrowth, 6 patients (18.8%) showed >50% hair regrowth, ten (31.3%) had <50% hair regrowth, 6 (18.75%) were non responders, and another 6 patients (18.8%) had relapse after an initial regrowth. Multivariate analysis revealed that patients reporting at the first episode and those with multifocal disease had the best results.
CONCLUSION
Methylprednisolone infusions represent a possible therapeutic option for patients with multifocal alopecia areata and those presenting with the first episode of the disease.
Topics: Adolescent; Adult; Alopecia; Alopecia Areata; Anti-Inflammatory Agents; Child; Child, Preschool; Female; Humans; Infusions, Intravenous; Male; Methylprednisolone; Middle Aged; Prospective Studies; Recurrence; Severity of Illness Index; Time Factors; Treatment Outcome; Young Adult
PubMed: 25566921
DOI: 10.4103/0378-6323.148608 -
BioMed Research International 2013Alopecia areata (AA) is a common hair disorder observed in dermatological practice; however, the exact mechanisms that lead to the hair loss are still unknown....
Alopecia areata (AA) is a common hair disorder observed in dermatological practice; however, the exact mechanisms that lead to the hair loss are still unknown. Disturbances in the blood supply of hair follicles may be one of the elements in the complex pathogenesis of AA. Nailfold videocapillaroscopy is a noninvasive technique that allows analysis of skin microcirculation in vivo. The aim of the study was the videocapillaroscopic assessment of skin microcirculation in AA patients. The study included 44 patients with patchy alopecia areata, 27 with alopecia universalis or totalis, and 40 healthy volunteers. Nailfold videocapillaroscopy was performed in all participants according to a standard protocol. Obtained images were assessed qualitatively and quantitatively. Two types of videocapillaroscopic images were distinguished in the study. Abnormal videocapillaroscopic images were found in 42% of patients. Tortuous and branching capillaries (P = 0.013, P = 0.001), decreased density of capillaries (P = 0.009), enlargement of the efferent limb (P < 0.017), or top part of the loop (P = 0.009) were observed significantly more often than in the control group. Only some patients with AA presented with microvascular abnormalities characterised by altered videocapillaroscopic images. More studies, including larger group of patients with AA, are required to determine the role of observed videocapillaroscopic alterations in AA.
Topics: Adult; Alopecia Areata; Capillaries; Case-Control Studies; Female; Humans; Male; Microcirculation; Microscopic Angioscopy; Middle Aged; Video Recording; Young Adult
PubMed: 24163812
DOI: 10.1155/2013/160203 -
Skin Appendage Disorders Sep 2022Alopecia areata (AA) is a type of nonscarring alopecia that has autoimmune etiology, in which the hair follicle, usually an immune-privileged site, becomes the target of...
INTRODUCTION
Alopecia areata (AA) is a type of nonscarring alopecia that has autoimmune etiology, in which the hair follicle, usually an immune-privileged site, becomes the target of attack. Alopecia totalis (AT) is a subset of AA in which patients completely lose hair on the scalp. Initial hair regrowth is often fine and without pigment. We present a case of AT in which pigmented hair grew only overlying superficial veins, a finding which has not been previously reported.
CASE PRESENTATION
An adult female with brown hair presented with AA that progressed to AT despite the use of triamcinolone ointment and topical 2% tofacitinib ointment. She was treated with nightly augmented betamethasone dipropionate 0.05% ointment under occlusion. Two months later, she noticed diffuse regrowth of thin hair on her scalp, most of which was depigmented. However, linear bands of darkly pigmented hairs were noted overlying superficial scalp veins.
DISCUSSION/CONCLUSION
Loss of pigmentation and subsequent repigmentation of the hair shaft in regrowing AA is not entirely understood. Initial hair regrowth in AA tends to be fine and depigmented, although the hair will usually regain normal texture and color. Pigmentation following a vein suggests that local temperature may play a role, possibly augmented by corticosteroid induced reduced expression of inflammatory cytokines and endothelial release of the vasoconstrictor hormone endothelin, which stimulates melanogenesis.
PubMed: 36161076
DOI: 10.1159/000524247 -
International Journal of Trichology 2017The efficacy of traditional medical treatments for alopecia areata (AA) is limited, leading some to pursue alternative treatments. The utilization and nature of these...
BACKGROUND
The efficacy of traditional medical treatments for alopecia areata (AA) is limited, leading some to pursue alternative treatments. The utilization and nature of these treatments are unclear.
OBJECTIVE
To assess the extent to which patients with AA pursue alternative treatments and to characterize these treatments.
METHODS
A 13-item electronic survey was E-mailed by the National Alopecia Areata Foundation (NAAF) to their patient database and shared on the NAAF social media to individuals with AA.
RESULTS
Of 1083 respondents, 78.1% of patients were very or somewhat unsatisfied, compared to 7.7% who were very or somewhat satisfied with the current medical treatments for AA. Approximately a third of patients pursued therapy-related mental health services (31.2%) and attended support groups (29.0%). Patients were more likely to pursue a mental health-related therapy if they had long-standing alopecia, or if they were young, female, or white.
LIMITATIONS
This was a convenience sample of patients recruited online and via the NAAF AA registry.
CONCLUSION
Many patients with AA are dissatisfied with current treatments and are seeking mental health treatment for AA. While the efficacy of alternative therapies is unknown, further research is needed to determine their role in the treatment of AA.
PubMed: 29118520
DOI: 10.4103/ijt.ijt_53_17 -
American Journal of Human Genetics Jan 2020Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe...
Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to severe multi-systemic disorders with early death and disability. To date, we know of pathogenic variants in genes encoding five out of 10 subunits and five out of 13 assembly factors of CIII. Here we describe rare bi-allelic variants in the gene of a catalytic subunit of CIII, UQCRFS1, which encodes the Rieske iron-sulfur protein, in two unrelated individuals. Affected children presented with low CIII activity in fibroblasts, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, and alopecia totalis. Studies in proband-derived fibroblasts showed a deleterious effect of the variants on UQCRFS1 protein abundance, mitochondrial import, CIII assembly, and cellular respiration. Complementation studies via lentiviral transduction and overexpression of wild-type UQCRFS1 restored mitochondrial function and rescued the cellular phenotype, confirming UQCRFS1 variants as causative for CIII deficiency. We demonstrate that mutations in UQCRFS1 can cause mitochondrial disease, and our results thereby expand the clinical and mutational spectrum of CIII deficiencies.
Topics: Alleles; Alopecia; Cardiomyopathies; Child; Electron Transport Complex III; Humans; Infant; Iron-Sulfur Proteins; Male; Mitochondrial Diseases; Mutation; Pedigree
PubMed: 31883641
DOI: 10.1016/j.ajhg.2019.12.005 -
Anais Brasileiros de Dermatologia 2016Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as...
BACKGROUND
Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients.
OBJECTIVE
We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters.
METHODS
This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed.
RESULTS
Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001).
CONCLUSIONS
Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study.
Topics: Adolescent; Adult; Aged; Case-Control Studies; Child; Child, Preschool; Female; Humans; Hypopigmentation; Male; Middle Aged; Nail Diseases; Nails, Malformed; Prevalence; Statistics, Nonparametric; Turkey; Vitiligo; Young Adult
PubMed: 27579738
DOI: 10.1590/abd1806-4841.20164620 -
Skin Appendage Disorders Mar 2022Diphenylcyclopropenone (DPCP) is the medication of choice for the treatment of severe alopecia areata (AA) according to AA treatment guidelines. Precise initiation and...
INTRODUCTION
Diphenylcyclopropenone (DPCP) is the medication of choice for the treatment of severe alopecia areata (AA) according to AA treatment guidelines. Precise initiation and application are important factors for successful treatment. However, it is difficult for patients who live far away to visit their doctor weekly.
METHODS
We conducted a retrospective cohort study to assess the cost, effectiveness, and side effects of DPCP treatment between office-use DPCP (O-DPCP) and home-use DPCP (H-DPCP) in severe AA patients. A cost-effectiveness analysis was performed from the perspective of healthcare providers and patients using real-world data and the national cost statistics for hospital services comparing O-DPCP and H-DPCP in patients with severe AA at 24, 36, and 48 weeks.
RESULTS
Two groups of 41 patients treated with O-DPCP and H-DPCP were enrolled. There was no significant difference in the proportion of patients who showed a favorable outcome (≥50% improvement) with minimal side effects between both groups at 24 (O-DPCP 43.9% vs. H-DPCP 26.8%, = 0.11), 36 (O-DPCP 58.5% vs. H-DPCP 43.9%, = 0.19), or 48 weeks (O-DPCP 63.4% vs. H-DPCP 56.1%, = 0.49). The cost of H-DPCP was half of the cost of O-DPCP.
DISCUSSION/CONCLUSION
H-DPCP is a cost-effective and time-efficient alternative treatment option for severe AA patients.
PubMed: 35419425
DOI: 10.1159/000520568 -
JAMA Dermatology Dec 2017The incidence of thyroid disease in children with alopecia areata (AA) has been widely studied with no consensus on whether a true association with AA exists. In...
IMPORTANCE
The incidence of thyroid disease in children with alopecia areata (AA) has been widely studied with no consensus on whether a true association with AA exists. In addition, screening practices for thyroid dysfunction in children with AA vary widely among clinicians.
OBJECTIVE
To reduce health care costs, eliminate unnecessary testing, and standardize clinical practices, we sought to characterize thyroid function in children with AA to establish guidelines for screening.
DESIGN, SETTING, AND PARTICIPANTS
A single-site retrospective medical chart review was carried out in an outpatient pediatric dermatology clinic in a tertiary referral medical center between January 1, 2008 and January 1, 2016. The study included 298 patients (ages 0-21 years) who received a clinical diagnosis of AA and underwent thyroid function tests.
MAIN OUTCOMES AND MEASURES
Age at diagnosis of AA, duration of disease, severity, location, and type were documented. Past medical history and family medical history of patients were also recorded. Results of laboratory tests including thyrotropin (formerly thyroid-stimulating hormone [TSH]), free T4 (FT4), triiodothyronine (T3), thyroid peroxidase antibodies (TPO-Abs), and thyroglobulin antibodies (Tg-Abs).
RESULTS
During the 8-year period, 298 patients with AA had thyroid function screening. Of those with thyroid screening, patterns of AA included patchy (68%), ophiasis (13%), totalis (9%), and universalis (10%). Severity was determined by percentage of hair loss on the scalp and were divided into mild (30.2%), moderate (32.9%), and severe (36.9%). A total of 59 (20%) patients had abnormalities on thyroid testing results. In this group of patients, hypothyroidism was the most frequent finding 29 (49%), with Hashimoto thyroiditis being the most common cause(24 [41%]). Other abnormalities included hyperthyroidism secondary to Grave disease (12 [20%]) and subclinical thyroid dysfunction (7 [12%]). Whereas age, duration of disease, pattern of alopecia, and diagnosis of autoimmune diseases had no significant association with abnormal thyroid findings, a personal history of Down syndrome (P = .004), atopy (P = .009), and family history of thyroid disease (P = .001) did.
CONCLUSIONS AND RELEVANCE
We recommend that routine thyroid function screening should be restricted to AA patients with a medical history of Down syndrome, personal history of atopy, a family history of thyroid disease, or clinical findings (goiter) suggestive of potential thyroid dysfunction in the individual patient.
Topics: Adolescent; Alopecia Areata; Autoimmune Diseases; Child; Child, Preschool; Female; Humans; Incidence; Infant; Male; Mass Screening; Practice Guidelines as Topic; Retrospective Studies; Severity of Illness Index; Thyroid Diseases; Thyroid Function Tests; Young Adult
PubMed: 28973128
DOI: 10.1001/jamadermatol.2017.3694